Showing entry for Hephaestin-like protein 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT016375
Protein NameHephaestin-like protein 1
Uniport IdQ6MZM0
GeneHEPHL1
Gene Id341208
DomainCu-oxidase_2; Cu-oxidase_3
Pfam PF07731   PF07732  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006879 cellular iron ion homeostasis
Biological Process GO:0006825 copper ion transport
Biological Process GO:0055072 iron ion homeostasis
Biological Process GO:0006826 iron ion transport
Biological Process GO:0055114 oxidation-reduction process
molecular function GO:0005507 copper ion binding
molecular function GO:0004322 ferroxidase activity
molecular function GO:0016491 oxidoreductase activity
cellular component GO:0016021 integral component of membrane
cellular component GO:0005886 plasma membrane
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0018500 BXGD001196 Hair Diseases Skin and Connective Tissue Diseases
C0026266 BXGD001895 Mitral Valve Insufficiency Cardiovascular Diseases
C0039075 BXGD002788 Syndactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0040961 BXGD002891 Tricuspid Valve Insufficiency Cardiovascular Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0240340 BXGD005031 Microdontia (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0263485 BXGD005313 Clastothrix Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0263491 BXGD005315 Pili Torti Skin and Connective Tissue Diseases
C0263523 BXGD005320 Micronychia (disorder) Skin and Connective Tissue Diseases
C0265610 BXGD005555 Clinodactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0332606 BXGD006897 Elfin facies
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0557874 BXGD009444 Global developmental delay
C1608408 BXGD013434 Malignant transformation
C1832446 BXGD013844 Sparse eyebrow
C1848207 BXGD014916 Poor speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1849811 BXGD015086 Pili torti developmental delay neurological abnormalities Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1855478 BXGD015500 Increased carrying angle
C1856963 BXGD015662 Fragile nails Pathological Conditions, Signs and Symptoms
C4025296 BXGD021631 Brittle scalp hair
C4551485 BXGD023312 Clinodactyly
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002616 Copper 63.55
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein